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Article

CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia.

American journal of medical genetics. Part A - 1 Jan 2025

Alsubeeh Najlaa A, Almuqbil Mohammed A, Davies William, Bertoli-Avella Aida, Anikar Swathi, Zonic Emir, Eyaid Wafaa M

Abstract excerpt

Trichohepatoneurodevelopmental syndrome (THNS) is an ultra-rare and complex disorder affecting multiple organ systems. It is characterized by liver dysfunction, hypotonia, global developmental delay, coarse hair, and dysmorphic features. We describe two cases of THNS of Saudi origin, the fifth and sixth cases in the medical literature. Both cases presented with multiple dysmorphic features, generalized hypotonia,...

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Identifiers

PMID: 39171352
DOI: 10.1002/ajmg.a.63784

Genes

CCDC47

Variants

Provenance

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